Submissions for variant NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)

dbSNP: rs121918735

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Bioinformatics, Peking University	RCV000059553	SCV000221859	pathogenic	Severe myoclonic epilepsy in infancy	2014-12-20	criteria provided, single submitter	research
DASA	RCV000059553	SCV002526397	likely pathogenic	Severe myoclonic epilepsy in infancy	2022-06-10	criteria provided, single submitter	clinical testing	The c.777C>A;p.(Ser259Arg) missense change has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 68673; PMID: 20431604; 30735520) - PS4.Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product (PMID: 30735520) - PS3_supporting. This variant is not present in population databases:rs121918735 , gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. The variant was assumed de novo, but without confirmation of paternity and maternity (PMID: 20431604; 30735520)PM6. In summary, the currently available evidence indicates that the variant is Likely Pathogenic
UniProtKB/Swiss-Prot	RCV000059553	SCV000091085	not provided	Severe myoclonic epilepsy in infancy		no assertion provided	not provided
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000678837	SCV000805026	pathogenic	Seizure	2017-08-14	no assertion criteria provided	clinical testing